A Novel Mutation in the FOXL2 Gene in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome, Leucoencephalopathy and Myasthenia Gravis
Abstract
Blepharophimosis-Ptosis-Epicanthus inversus Syndrome (BPES) is a rare autosomal dominant disease caused by FOXL2 gene mutations, and it is clinically characterized by an eyelid malformation associated (type I) or not (type II) with premature ovarian failure
Article Information
| Journal | SF Journal of Clinical Case Reports |
| Article Type | Case Report |
| Volume | 2 |
| Issue | 1 |